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    1807 results match your criteria Pseudohypoparathyroidism

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    Endocrinological and phenotype evaluation in a patient with acrodysostosis.
    Clin Pediatr Endocrinol 2017 27;26(3):177-182. Epub 2017 Jul 27.
    Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan.
    Acrodysostosis is characterized by distinctive facial features and severe brachydactyly. Mutations in PRKAR1A or PDE4D are known to be responsible for this disease. Cases of hormonal resistance have been reported, particularly in patients with PRKAR1A mutations. Read More

    A novel deletion involving GNAS exon 1 causes PHP1A and further refines the region required for normal methylation at exon A/B.
    Bone 2017 Oct 12;103:281-286. Epub 2017 Jul 12.
    Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA; Pediatric Nephrology Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA. Electronic address:
    GNAS exons 1-13 encode the biallelically expressed alpha-subunit of the stimulatory G protein (Gαs). Additional transcripts derived from this locus use alternative first exons that undergo parent-specific methylation, thus allowing transcription only from the non-modified allele. Pseudohypoparathyroidism type Ia (PHP1A) is characterized by Albright's Hereditary Osteodystrophy (AHO) and resistance to multiple hormones; this disorder is caused by maternal inactivating mutations involving Gαs exons. Read More

    Mice maintain predominantly maternal Gαs expression throughout life in brown fat tissue (BAT), but not other tissues.
    Bone 2017 Oct 8;103:177-187. Epub 2017 Jul 8.
    Endocrine Unit, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA; Pediatric Nephrology Unit, Department of Pediatrics, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA. Electronic address:
    The murine Gnas (human GNAS) locus gives rise to Gαs and different splice variants thereof. The Gαs promoter is not methylated thus allowing biallelic expression in most tissues. In contrast, the alternative first Gnas/GNAS exons and their promoters undergo parent specific methylation, which limits transcription to the non-methylated allele. Read More

    Hypothyroidism associated with parathyroid disorders.
    Best Pract Res Clin Endocrinol Metab 2017 Mar 15;31(2):161-173. Epub 2017 Apr 15.
    Endocrinology Service, Department of Biomedical Sciences, University of Milan, IRCCS Istituto Ortopedico Galeazzi, Milan, Italy. Electronic address:
    Hypothyroidism may occur in association with congenital parathyroid disorders determining parathyroid hormone insufficiency, which is characterized by hypocalcemia and concomitant inappropriately low secretion of parathormone (PTH). The association is often due to loss of function of genes common to thyroid and parathyroid glands embryonic development. Hypothyroidism associated with hypoparathyroidism is generally mild and not associated with goiter; moreover, it is usually part of a multisystemic involvement not restricted to endocrine function as occurs in patients with 22q11 microdeletion/DiGeorge syndrome, the most frequent disorders. Read More

    Pseudohypoparathyroidism type 1B - a rare cause of tetany: case report.
    Paediatr Int Child Health 2017 Jun 26:1-4. Epub 2017 Jun 26.
    c Endocrinology Unit, Department of Pediatrics , Centro Hospitalar Lisboa Central, EPE , Lisbon , Portugal.
    Pseudohypoparathyroidism (PHP) is a rare group of disorders characterised by end-organ resistance to the parathyroid hormone (PTH). A 16-year-old boy presented with a 2-year history of involuntary dystonic movements involving mainly the left hand, initially after writing and later during physical exercise. Serum calcium was 1. Read More

    Incidence of parathyroid disorders in Indian adult male population: A 25-year follow-up study.
    Clin Endocrinol (Oxf) 2017 Jun 15. Epub 2017 Jun 15.
    Department Pediatrics, Army Hospital (Research and Referral), Delhi, India.
    Context And Objective: Detailed information on the epidemiology of parathyroid disorders in India is lacking. Most of the available data pertain to primary hyperparathyroidism (PHPT) rather than the overall burden of parathyroid disorders. We studied the incidence of parathyroid disorders in a cohort of service personnel followed for a long duration. Read More

    [The mouth of patients with hypo- and pseudohypoparathyroidism].
    Presse Med 2017 May 5. Epub 2017 May 5.
    Université de Lille 2, Lille, France. Electronic address:
    Chronic calcipenia related to hypo- and pseudohypoparathyroidism favors trophic complications, especially expressed on the buccal cavity. Correlated with early onset of the disease and imperfect correction of the metabolic disorders, retardation to appearance and implantation of teeth are observed. The buccal signs often are the most immediately visible expression of the disease. Read More

    Early-Onset Obesity: Unrecognized First Evidence for GNAS Mutations and Methylation Changes.
    J Clin Endocrinol Metab 2017 Aug;102(8):2670-2677
    Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114.
    Context: Early-onset obesity, characteristic for disorders affecting the leptin-melanocortin pathway, is also observed in pseudohypoparathyroidism type 1A (PHP1A), a disorder caused by maternal GNAS mutations that disrupt expression or function of the stimulatory G protein α-subunit (Gsα). Mutations and/or epigenetic abnormalities at the same genetic locus are also the cause of pseudohypoparathyroidism type 1B (PHP1B). However, although equivalent biochemical and radiographic findings can be encountered in these related disorders caused by GNAS abnormalities, they are considered distinct clinical entities. Read More

    [Regulatory mechanism of calcium metabolism.]
    Clin Calcium 2017;27(4):483-490
    Department of Pediatrics Osaka University Graduate School of Medicine, Japan.
    It is often difficult for terrestrial animals to take enough calcium. To maintain serum or extracellular calcium levels is very important for muscle and nerve function. Two major regulators to increase the serum calcium levels are parathyroid hormone(PTH)and vitamin D. Read More

    Progressive Development of PTH Resistance in Patients With Inactivating Mutations on the Maternal Allele of GNAS.
    J Clin Endocrinol Metab 2017 Jun;102(6):1844-1850
    Reference Center for Rare Disorders of Calcium and Phosphate Metabolism, Platform of Expertise Paris-Sud for Rare Diseases and Filière OSCAR, AP-HP, Bicêtre Paris-Sud Hospital, 94270 Le Kremlin-Bicêtre, France.
    Context: Parathormone (PTH) resistance is characterized by hypocalcaemia, hyperphosphatemia, and elevated PTH in the absence of vitamin D deficiency. Pseudohypoparathyroidism type 1A [PHP1A, or inactivating parathormone (PTH)/PTHrp signaling disorder 2, according to the new classification (iPPSD2)], is caused by mutations in the maternal GNAS allele.

    Objective: To assess PTH resistance over time in 20 patients affected by iPPSD2 (PHP1A), diagnosed because of family history, ectopic ossification, or short stature, and carrying a GNAS mutation. Read More

    Pseudohypoparathyroidism with basal ganglia calcification: A case report of rare cause of reversible parkinsonism.
    Medicine (Baltimore) 2017 Mar;96(11):e6312
    Department of Neurology, Qilu Hospital of Shandong University, Jinan, China.
    Rationale: Parkinsonism can be secondary to many internal diseases, in some certain conditions, it seems that the clinical manifestations of parkinsonism presenting reversible. We report a case of patient with parkinsonism secondary to pseudohypoparathyroidism, who improved markedly after the supplement of serum calcium.

    Patient Concerns And Diagnoses: A 52-year-old woman with acute parkinsonism was diagnosed as pseudohypoparathyroidism after the conducting of brain computed tomography, laboratory examinations, and gene detection. Read More

    Role of DNA methylation in imprinting disorders: an updated review.
    J Assist Reprod Genet 2017 May 9;34(5):549-562. Epub 2017 Mar 9.
    Department of Clinical Pharmacy, School of Pharmacy, Tanta University, Tanta, 31512, Gharbia, Egypt.
    Genomic imprinting is a complex epigenetic process that contributes substantially to embryogenesis, reproduction, and gametogenesis. Only small fraction of genes within the whole genome undergoes imprinting. Imprinted genes are expressed in a monoallelic parent-of-origin-specific manner, which means that only one of the two inherited alleles is expressed either from the paternal or maternal side. Read More

    Femoral neck's fracture in Fahr's Syndrome: case report.
    Clin Cases Miner Bone Metab 2016 Sep-Dec;13(3):265-267. Epub 2017 Feb 10.
    Orthopaedics and Traumatology Department, University of Palermo, Palermo, Italy.
    Fahr's syndrome, also known as "Bilateral Striopallidodentate Calcinosis" (BSPDC) primitive, is a rare neurological disease characterized by the presence of idiopathic, bilateral, symmetrical and abnormal deposition of calcium in areas of the brain that control movements including the basal ganglia, dentate nuclei of the cerebellum, nuclei of thalamus and semi-oval center. We describe a case of a 76-year-old male patient underwent reduction and fixation of a subtrochanteric fracture with intramedullary nail. During post-operative rehabilitation therapists's patient management was difficult due to obvious extrapyramidal symptoms characterized by dysarthria, rigidity, bradykinesia, postural instability. Read More

    Deconstructing Fahr's disease/syndrome of brain calcification in the era of new genes.
    Parkinsonism Relat Disord 2017 Apr 27;37:1-10. Epub 2016 Dec 27.
    Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, Queen Square, London, UK. Electronic address:
    Introduction: There are now a number genes, known to be associated with familial primary brain calcification (PFBC), causing the so called 'Fahr's' disease or syndrome. These are SCL20A2, PDGFB, PDGFRB and XPR1. In this systematic review, we analyse the clinical and radiological features reported in genetically confirmed cases with PFBC. Read More

    A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B).
    J Bone Miner Res 2017 Apr 24;32(4):776-783. Epub 2017 Feb 24.
    Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
    Pseudohypoparathyroidism type Ib (PHP1B) is characterized primarily by resistance to parathyroid hormone (PTH) and thus hypocalcemia and hyperphosphatemia, in most cases without evidence for Albright hereditary osteodystrophy (AHO). PHP1B is associated with epigenetic changes at one or several differentially-methylated regions (DMRs) within GNAS, which encodes the α-subunit of the stimulatory G protein (Gsα) and splice variants thereof. Heterozygous, maternally inherited STX16 or GNAS deletions leading to isolated loss-of-methylation (LOM) at exon A/B alone or at all maternal DMRs are the cause of autosomal dominant PHP1B (AD-PHP1B). Read More

    Raised intracranial pressure as a result of pansynostosis in a child with Albright's hereditary osteodystrophy.
    Childs Nerv Syst 2017 May 29;33(5):865-868. Epub 2016 Dec 29.
    Department of Neurosurgery, Aalborg University Hospital, Hobrovej 18-22, 9000, Aalborg, Denmark.
    Case: The authors describe the case of an 8-year-old boy with pansynostosis in the context of Albright's hereditary osteodystrophy (AHO). This condition had lead to raised intracranial pressure (ICP). The elevated ICP was a consequence of the rigid skull impeding brain growth. Read More

    Pseudohypoparathyroidism: one gene, several syndromes.
    J Endocrinol Invest 2017 Apr 19;40(4):347-356. Epub 2016 Dec 19.
    Endocrine Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Thier 10, 50 Blossom Street, Boston, MA, 02114, USA.
    Pseudohypoparathyroidism (PHP) and pseudopseudohypoparathyroidism (PPHP) are caused by mutations and/or epigenetic changes at the complex GNAS locus on chromosome 20q13.3 that undergoes parent-specific methylation changes at several sites. GNAS encodes the alpha-subunit of the stimulatory G protein (Gsα) and several splice variants thereof. Read More

    Isolated PTH Renal Resistance Pseudohypoparathyroidism 1b: A Rare Cause of Hypocalcemia.
    JNMA J Nepal Med Assoc 2016 Jul-Sep;55(203):33-35
    Department of internal medicine, State University of New York (SUNY) Upstate, New York, USA.
    A case of Pseudohypoparathyroidism 1b is reported, who presented with signs and symptoms of hypocalcemia. Causes, diagnosis and management with new insight into genetic novel mutations in PHP are discussed. The objectives are to provide information regarding problems of Calcium balance, causes and making diagnosis of pseudohypoparathyroidism, learn complexities of PTH cellular interactions and calcium homeostasis and learn the genetic novel mutations of various types of PHP. Read More

    A novel mutation in a case of pseudohypoparathyroidism type Ia.
    Turk J Pediatr 2016 ;58(1):101-105
    Department of Clinical Genetics, Dr. Ersin Arslan Hospital, Gaziantep, Turkey.
    Pseudohypoparathyroidism (PHP) type Ia is characterized by multiple hormone resistance; primarily parathyroid hormone (PTH) resistance and Albright's hereditary osteodystrophy (AHO) which involves skeletal and developmental defects. The AHO phenotype alone without hormone resistance is defined as pseudoPHP. A boy was first diagnosed as having both rickets and primary hypothyroidism at 2. Read More

    Hypoparathyroidism and pseudohypoparathyroidism: etiology, laboratory features and complications.
    Arch Endocrinol Metab 2016 Nov-Dec;60(6):532-536. Epub 2016 Nov 24.
    Serviço de Endocrinologia e Metabologia do Paraná (SEMPR), Universidade Federal do Paraná (UFPR), Curitiba, PR, Brasil.
    Objectives: To identify a clinical profile and laboratory findings of a cohort of hypoparathyroidism patients and determine the prevalence and predictors for renal abnormalities.

    Materials And Methods: Data from medical records of five different visits were obtained, focusing on therapeutic doses of calcium and vitamin D, on laboratory tests and renal ultrasonography (USG).

    Results: Fifty-five patients were identified, 42 females and 13 males; mean age of 44. Read More

    Sporadic pseudohypoparathyroidism type-1b with asymptomatic hypocalcemia.
    Pediatr Int 2016 Nov;58(11):1229-1231
    Department of Pediatrics, School of Medicine, University of Occupational and Environmental Health, Kitakyushu City, Fukuoka, Japan.
    Pseudohypoparathyroidism type 1b (PHP-1b) is usually diagnosed on various symptoms of hypocalcemia. Previous studies reported a few cases of autosomal dominant pattern PHP-1b identified on familial analysis with asymptomatic hypocalcemia. Herein we report the case of a 6-year-old male patient with sporadic PHP-1b incidentally detected on preoperative examination. Read More

    Nonclassic features of pseudohypoparathyroidism type 1A.
    Curr Opin Endocrinol Diabetes Obes 2017 Feb;24(1):33-38
    aDivision of Pediatric Endocrinology, Vanderbilt University, Nashville, TN bEndocrine Unit and Pediatric Nephrology Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
    Purpose Of Review: To provide readers with a review of contemporary literature describing the evolving understanding of the pseudohypoparathyroidism type 1A (PHP1A) phenotype.

    Recent Findings: The classic features of PHP1A include multihormone resistance and the Albright Hereditary Osteodystrophy phenotype (round facies, short stature, subcutaneous ossifications, brachydactyly, and early-onset obesity. Obesity may be because of a decrease in resting energy expenditure because most patients do not report significant hyperphagia. Read More

    Genetic and epigenetic alterations in the GNAS locus and clinical consequences in Pseudohypoparathyroidism: Italian common healthcare pathways adoption.
    Ital J Pediatr 2016 Nov 21;42(1):101. Epub 2016 Nov 21.
    Department of Public Health and Pediatric Sciences, University of Turin - Regina Margherita Children's Hospital - Health and Science City, Subintensiva Allargata Prima Infanzia, Piazza Polonia 94, 10126, Torino, Italy.
    Background: Genetic and epigenetic alterations in the GNAS locus are responsible for the Gsα protein dysfunctions causing Pseudohypoparathyroidism (PHP) type Ia/c and Ib, respectively. For these heterogeneous diseases characterized by multiple hormone resistances and Albright's Hereditary Osteodystrophy (AHO) the current classification results inadequate because of the clinical overlap between molecular subtypes and a standard clinical approach is still missing. In the present paper several members of the Study Group Endocrine diseases due to altered function of Gsα protein of the Italian Society of Pediatric Endocrinology and Diabetology (ISPED) have reviewed and updated the clinical-molecular data of the largest case series of (epi)/genetically characterized AHO/PHP patients; they then produced a common healthcare pathway for patients with these disorders. Read More

    Osteosarcoma in a Patient With Pseudohypoparathyroidism Type 1b Due to Paternal Uniparental Disomy of Chromosome 20q.
    J Bone Miner Res 2017 Apr 17;32(4):770-775. Epub 2017 Feb 17.
    Department of Internal Medicine, Endocrine Research Institute, Severance Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea.
    It is assumed that a persistent high level of parathyroid hormone (PTH) might have a relation with bone malignancy. However, there has been no report of osteosarcoma associated with pseudohypoparathyroidism type 1b (PHP1b), which is accompanied by high PTH. PHP1b is the result of resistance to PTH in certain end-organ tissues, especially the kidney; the response in bone is unaffected because it normally expresses stimulatory G protein equally from both parental alleles. Read More

    Neuropsychiatric phenotype in a child with pseudohypoparathyroidism.
    J Pediatr Neurosci 2016 Jul-Sep;11(3):267-270
    Department of Pediatrics, Pediatric Endocrinology and Rare Diseases Unit, S. Orsola-Malpighi University Hospital, University of Bologna, Bologna, Italy.
    Pseudohypoparathyroidism (PHP) is a rare heterogeneous genetic disease characterized by end-organ resistance to parathyroid hormone. In adulthood, heterogeneous neurological and psychiatric disorders have been reported which are associated with hypoparathyroidism in general and with PHP in particular, while for childhood, data are scanty. We report a case of a boy with PHP type 1b, in whom neurological signs at the onset prevailed, characterized by tic-like dyskinesias associated with a series of heterogeneous not well-defined neurological and behavioral features, describing the diagnostic work-up performed and the follow-up. Read More

    [Genes in the cAMP pathway causing skeletal dysplasia with or without hormonal resistance].
    Biol Aujourdhui 2016 4;210(3):167-170. Epub 2016 Nov 4.
    Service de Génétique et Biochimie Moléculaires, AP-HP Hôpital Cochin, Paris, France et Centre de référence des maladies rares du métabolisme phosphocalcique, Filière OSCAR  - UMR-S 1169 Inserm-UP Sud, Le Kremlin-Bicêtre, France.
    Acrodysostosis refers to a heterogeneous group of rare skeletal dysplasia that share characteristic features including severe brachydactyly, facial dysostosis and nasal hypoplasia. The literature describing acrodysostosis cases has been confusing because some reported patients may have had other phenotypically related diseases presenting Albright Hereditary Osteodystrophy (AHO) such as pseudohypoparathyroidism type 1a (PHP1a) or pseudopseudohypoparathyroidism (PPHP). A question has been whether patients display or not abnormal mineral metabolism associated with resistance to PTH and/or resistance to other hormones that bind G-protein coupled receptors (GPCR) linked to Gsa, as observed in PHP1a. Read More

    Subclinical hypothyroidism in childhood - current knowledge and open issues.
    Nat Rev Endocrinol 2016 Dec 1;12(12):734-746. Epub 2016 Jul 1.
    Department of Pediatric, Gynecology, Microbiological and Biochemical Sciences, University of Messina, Messina, 98125, Italy.
    Subclinical hypothyroidism is defined as serum levels of TSH above the upper limit of the reference range, in the presence of normal concentrations of total T4 or free T4. This biochemical profile might be an indication of mild hypothyroidism, with a potential increased risk of metabolic abnormalities and cardiovascular disease recorded among adults. Whether subclinical hypothyroidism results in adverse health outcomes among children is a matter of debate and so management of this condition remains challenging. Read More

    Hypocalcemic Cardiomyopathy and Pseudohypoparathyroidism Due to Severe Vitamin D Deficiency.
    J Assoc Physicians India 2016 Jun;64(6):74-76
    Senior Consultant Cardiologist, Batra Hospital and Medical Research Centre, New Delhi.
    Hypocalcemic cardiomyopathy is a rare entity. We describe a patient with severe heart failure, decreased ejection fraction and global hypokinesia documented on echocardiogram, associated with severe hypocalcemia, very low vitamin D status, increased QT intervals, increased BNP (serum brain natriuretic peptide) levels and CPK (creatine phosphokinase) levels. All these defects reversed on treatment with vitamin D and calcium within a few days without any specific cardiac intervention. Read More

    The Association of Pseudohypoparathyroidism Type Ia with Chiari Malformation Type I: A Coincidence or a Common Link?
    Case Rep Med 2016 14;2016:7645938. Epub 2016 Sep 14.
    Division of Pediatric Endocrinology, McMaster Children's Hospital, Hamilton, ON, Canada.
    A 19-month-old boy was referred for progressive weight gain. His past medical history included congenital hypothyroidism and developmental delay. Physical examination revealed characteristics of Albright Hereditary Osteodystrophy, macrocephaly, and calcinosis cutis. Read More

    Families of Pseudohypoparathyroidism presenting as Seizure.
    J Assoc Physicians India 2015 Oct;63(10):71-4
    Resident, Department of Medicine, Pt. B. D. Sharma Post Graduate Institute of Medical Sciences, Rohtak, Haryana.
    Pseudohypoparathyroidism (PHP) is a heterogeneous group of disorders characterized by variable insensitivity to parathyroid hormone. We describe two cases of 22 year male and 24 year female who have typical clinical features of Albright's hereditary osteodystrophy (AHO). Laboratory investigation revealed evidence of pseudohypoparathyroidism and skeletal survey showed shortening of the metacarpals and metatarsals. Read More

    A Novel T55A Variant of Gs α Associated with Impaired cAMP Production, Bone Fragility, and Osteolysis.
    Case Rep Endocrinol 2016 7;2016:2691385. Epub 2016 Aug 7.
    Division of Endocrinology, Diabetes, and Metabolism and The Institute for Human Genetics, Department of Medicine, University of California, San Francisco, San Francisco, CA 94143, USA.
    G-protein coupled receptors (GPCRs) mediate a wide spectrum of biological activities. The GNAS complex locus encodes the stimulatory alpha subunit of the guanine nucleotide binding protein (Gsα) and regulates production of the second messenger cyclic AMP (cAMP). Loss-of-function GNAS mutations classically lead to Albright's Hereditary Osteodystrophy (AHO) and pseudohypoparathyroidism, often with significant effects on bone formation and mineral metabolism. Read More

    A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel.
    J Pediatr Endocrinol Metab 2016 Sep;29(9):1111-4
    Aarskog-Scott syndrome (ASS) is a rare X-linked recessive genetic disorder caused by FGD1 mutations. FGD1 regulates the actin cytoskeleton and regulates cell growth and differentiation by activating the c-Jun N-terminal kinase signaling cascade. ASS is characterized by craniofacial dysmorphism, short stature, interdigital webbing and shawl scrotum. Read More

    Cataract in pseudohypoparathyroidism.
    J Cataract Refract Surg 2016 Jul;42(7):1094-6
    From the Department of Ophthalmology (Grajewski, K.R. Koch, Ciotu, Cursiefen, Heindl), University of Cologne, Cologne, and the Hochkreuzklinik Eye Hospital (H.-R. Koch), Bonn, Germany; the Department of Ophthalmology (Ciotu), University Emergency Hospital of Bucharest, Romania.
    Unlabelled: A 22-year-old white man presented with photopsia of 3-year duration despite a corrected distance visual acuity of 20/20 in both eyes. Ophthalmic examination revealed multiple irregularly shaped white cortical opacifications of the lens in both eyes but no other significant ocular findings. One year after the photopsia onset, the patient experienced an episode of seizures with generalized tonic-clonic movements. Read More

    A Case of Primary Hypogonadism with Features of Albright's Syndrome.
    J Reprod Infertil 2016 Jul-Sep;17(3):188-90
    Department of Endocrinology, Mission Hospital, Durgapur, West Bengal, India.
    Background: McCune Albright syndrome is rare with an estimated prevalence of 1 in 100,000 to 1 in 1,000,000 persons. The classical clinical triad consists of fibrous dysplasia of the bone, café-au-lait skin spots and precocious puberty. However, in rare cases, there may be primary hypogonadism and amenorrhea. Read More

    Pseudohypoparathyroidism Type 1A-Subclinical Hypothyroidism and Rapid Weight Gain as Early Clinical Signs: A Clinical Review of 10 Cases.
    J Clin Res Pediatr Endocrinol 2016 12 20;8(4):432-438. Epub 2016 Jul 20.
    Victor Jousselin Hospital, Clinic of Pediatrics and Neonatal Medicine, Pediatric Endocrinology Unit, Dreux, France, Phone: +33 2 37 51 53 13 E-mail:
    Objective: To evaluate the clinical signs and symptoms that would help clinicians to consider pseudohypoparathyroidism (PHP) type 1A as a diagnosis in a child.

    Methods: A retrospective review of the medical records of children diagnosed by erythrocyte Gsα activity and/or GNAS1 gene study and followed-up for PHP type 1A. Clinical and biochemical parameters along with epidemiological data were extracted and analyzed. Read More

    The Prevalence of GNAS Deficiency-Related Diseases in a Large Cohort of Patients Characterized by the EuroPHP Network.
    J Clin Endocrinol Metab 2016 Oct 18;101(10):3657-3668. Epub 2016 Jul 18.
    Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (F.M.E., E.V., P.B., G.M.), Department of Clinical Sciences and Community Health, University of Milan, Endocrinology and Diabetology Unit, Milan, Italy; APHP (A.L., V.G., P.H.), Reference Center for Rare Disorders of the Mineral Metabolism and Plateforme d'expertise Paris Sud Maladies Rares, Le Kremlin Bicêtre, France; INSERM U1169 (A.L., V.G., P.H.), Hôpital Bicêtre, Le Kremlin Bicêtre, et Université Paris-Saclay, France; Molecular (Epi)Genetics Laboratory (I.G., A.P., G.P.d.N.), BioAraba National Health Institute, Hospital Universitario Araba-Txagorritxu, Vitoria-Gasteiz, Spain; Department of Public Health and Pediatrics (L.d.S., F.G.), University of Turin, Regina Margherita Children's Hospital, Health and Science City, Turin, Italy; Department of Biochemistry and Molecular Biology (A.P.), University of Basque Country, Leioa, Spain.
    Context: The term pseudohypoparathyroidism (PHP) was coined to describe the clinical condition resulting from end-organ resistance to parathormone (rPTH), caused by genetic and/or epigenetic alterations within or upstream of GNAS. Although knowledge about PHP is growing, there are few data on the prevalence of underlying molecular defects.

    Objective: The purpose of our study was to ascertain the relative prevalence of PHP-associated molecular defects. Read More

    Follow-up Findings in a Turkish Girl with Pseudohypoparathyroidism Type Ia Caused by a Novel Heterozygous Mutation in the GNAS Gene.
    J Clin Res Pediatr Endocrinol 2017 Mar 18;9(1):74-79. Epub 2016 Jul 18.
    İstanbul University Cerrahpaşa Faculty of Medicine, Department of Pediatric Genetics, İstanbul, Turkey Phone: +90 212 4143192 E-mail:
    Pseudohypoparathyroidism type Ia (PHP-Ia) is characterized by multihormone resistance and an Albright hereditary osteodystrophy (AHO) phenotype. It is caused by heterozygous mutations in GNAS gene. Clinical and biochemical findings of a female PHP-Ia patient were evaluated from age of diagnosis (6. Read More

    Pseudohypoparathyroidism type I-b with neurological involvement is associated with a homozygous PTH1R mutation.
    Genes Brain Behav 2016 Sep 24;15(7):669-77. Epub 2016 Aug 24.
    Neurology Department, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
    Pseudohypoparathyroidism type 1b (PHP1b) is characterized by hypocalcemia, hyperphosphatemia, increased levels of circulating parathyroid hormone (PTH), and no skeletal or developmental abnormalities. The goal of this study was to perform a full characterization of a familial case of PHP1b with neurological involvement and to identify the genetic cause of disease. The initial laboratory profile of the proband showed severe hypocalcemia, hyperphosphatemia and normal levels of PTH, which was considered to be compatible with primary hypoparathyroidism. Read More

    From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network.
    Eur J Endocrinol 2016 Dec 11;175(6):P1-P17. Epub 2016 Jul 11.
    APHPReference Center for rare disorders of the Calcium and Phosphate Metabolism, filière OSCAR and Plateforme d'Expertise Maladies Rares Paris-Sud, Hôpital Bicêtre Paris Sud, Le Kremlin Bicêtre, France
    Objective: Disorders caused by impairments in the parathyroid hormone (PTH) signalling pathway are historically classified under the term pseudohypoparathyroidism (PHP), which encompasses rare, related and highly heterogeneous diseases with demonstrated (epi)genetic causes. The actual classification is based on the presence or absence of specific clinical and biochemical signs together with an in vivo response to exogenous PTH and the results of an in vitro assay to measure Gsa protein activity. However, this classification disregards other related diseases such as acrodysostosis (ACRDYS) or progressive osseous heteroplasia (POH), as well as recent findings of clinical and genetic/epigenetic background of the different subtypes. Read More

    Intracranial Cortical Calcifications in a Focal Epilepsy Patient with Pseudohypoparathyroidism.
    J Epilepsy Res 2016 Jun 30;6(1):31-5. Epub 2016 Jun 30.
    Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul;; Neuroscience Center, Samsung Medical Center, Seoul, Korea.
    Patients with chronic parathyroid dysfunction often have intracranial calcification in deep gray matter (GM) and subcortical white matter (WM) of their brain. Some of them are also epilepsy patients. Although cortical etiologies are main cause of epileptic seizure, cortical calcification has not been reported in these patients. Read More

    Macrosomia, obesity, and macrocephaly as first clinical presentation of PHP1b caused by STX16 deletion.
    Am J Med Genet A 2016 Sep 23;170(9):2431-5. Epub 2016 Jun 23.
    Department of Medical Genetics, University Medical Centre, Utrecht, The Netherlands.
    Pseudohypoparathyroidism (PHP) is a genetic disorder with resistance to parathyroid hormone (PTH) as most important feature. Main subtypes of the disease are pseudohypoparathyroidism 1b (PHP1b) and pseudohypoparathyroidism 1a (PHP1a). PHP1b is characterized by PTH resistance of the renal cortex due to reduced activity of the stimulatory G protein α subunit (Gsα) of the PTH receptor. Read More

    Complex Genomic Rearrangement Within the GNAS Region Associated With Familial Pseudohypoparathyroidism Type 1b.
    J Clin Endocrinol Metab 2016 Jul 2;101(7):2623-7. Epub 2016 Jun 2.
    Departments of Molecular Endocrinology (A.N., K.M., S.S., M.K., M.F.) and Systems BioMedicine (K.O.) and Institute (Y.M.), National Research Institute for Child Health and Development, Tokyo 157-8535, Japan; Division of Endocrinology and Metabolism (R.H.), National Medical Center for Children and Mothers, Tokyo 157-8535, Japan; Department of Internal Medicine (E.H., Y.N.), Japanese Red Cross Kanazawa Hospital, Kanazawa 921-8162, Japan; Division of Pediatrics, Department of Homeostatic Regulation and Development (K.N.), Niigata University Graduate School of Medical and Dental Sciences, Niigata 951-8510, Japan; Department of Reproductive Biology (A.U.), Center for Regenerative Medicine, National Institute for Child Health and Development, Tokyo 157-8535, Japan; Department of Pediatrics (T.T.), Jichi Children's Medical Center Tochigi, Shimotsuke 329-0498, Japan; and Department of Pediatrics (T.O.), Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan.
    Context: Pseudohypoparathyroidism type 1b (PHP-1b) results from methylation defects at the G protein stimulatory α subunit (GNAS) exon A/B-differentially methylated region (DMR). Although microduplications in the GNAS region were recently identified in two PHP-1b patients, genetic information on these patients remained fragmentary.

    Case Description: A 20-year-old Japanese male and his mother presented with hypocalcemia and elevated blood levels of intact PTH. Read More

    Chronic Hypoparathyroidism Due to Partial Thyroidectomy with Intracranial Calcification.
    Acta Med Indones 2016 Jan;48(1):68-9
    Department of Internal Medicine, Faculty of Medicine, Universitas Pelita Harapan-Siloam Hospital Lippo Village, Banten, Indonesia.
    A 57 year old female came with the complaint of recurrent headache, often fatigue, and sometimes feel numbs and rigid in her extremities, no other symptom was noted. Her body weight is stable and she was in menopausal state. She had a history of partial thyroidectomy 20 years ago and continues thiamazole 2. Read More

    [Pathophysiology of Hypoparathyroidism].
    Clin Calcium 2016 Jun;26(6):831-8
    Department of Bone and Mineral Research,Osaka Medical Center and Research Institute for Maternal and Child Health, Japan.
    Hypoparathyroidism in a broad sense is caused by a parathyroid hormone (PTH) deficiency or resistance, leading to hypocalcemia and hyperphosphatemia. PTH deficiency can be result from destruction or hypoplasia/agenesis of the parathyroid gland, or the impaired synthesis or secretion of PTH. On the other hand, PTH resistance is based on the disrupted transduction of its signaling and includes pseudohypoparathyroidism, Blomstrand lethal chondrodysplasia and acrodysostosis. Read More

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